A Novel Mutation-BRCA1 Associated Hereditary Haplotype of Intragenic Markers of BRCA1 Gene in a Family with History of Breast Cancer

Abstract

Background: Breast cancer is the most common cancer diagnosed among women, Tumor suppressor genes such<br />as BRCA1 involved in cell cycle control and repairing of DNA damage. BRCA1 is a risk factor gene that alteration<br />in its protein cause in susceptibility to breast or ovarian cancer. Short tandem repeat (STR) polymorphism is linked to<br />some disease. Objective: The aim of this study was screening a new mutation in patients with familial breast cancer.<br />Materials and Methods: In this study, 200 women with breast cancer were participated. Among the patients, 40 women<br />suffer from familial breast cancer. After DNA extraction from peripheral blood samples, Exons 16 to 23 of BRCA1 gene<br />directly analyzed in SSCP gel electrophoresis followed by direct sequencing. Results: After direct sequencing, a new<br />mutation was detected in intron 17 of BRCA1 gene. Three patients of one family have a germ line intronic mutation in<br />the BRCA1 gene (IVS17-27delA). Also, this mutation in this family is linked to a haplotype of intragenic short tandem<br />repeat (STR) in the BRCA1 gene. Conclusion: By Screening of gene mutations can be found association of mutation<br />and incidence of disease. Also, studying the mutation in families and finding specific hereditary patterns in that family<br />can be effective in prognosis of disease in other family members.